esv20105
- Organism: Homo sapiens
- Study:estd20 (Conrad et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:107,993
- Publication(s):Conrad et al. 2009
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 577 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 577 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| esv20105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 54,179,969 | 54,287,961 |
| esv20105 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 55,939,729 | 56,047,721 |
| esv20105 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 55,609,735 | 55,717,727 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| essv82599 | Remapped | Perfect | NC_000010.11:g.(?_ 54179969)_(5428796 1_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 54,179,969 | 54,287,961 |
| essv82599 | Remapped | Perfect | NC_000010.10:g.(?_ 55939729)_(5604772 1_?)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 55,939,729 | 56,047,721 |
| essv82599 | Submitted genomic | NC_000010.9:g.(?_5 5609735)_(55717727 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 55,609,735 | 55,717,727 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| essv82599 | 2 | NA19190 | Oligo aCGH | Probe signal intensity | Pass |